Evidence map›Paper›PMID 41313243›Full record

ArticleJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2026

Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework.

Ryan F Webb, Hannah McCurry, Amanda Girod, Madeline Hughes, Emma Wilcox, Mayher Patel, Eleanor C Broeren, Kezang C Tshering, Marina DiStefano, Lorenzo D Botto and 18 more

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Article in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

28 authors.

Ryan F WebbProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.
Hannah McCurryProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.
Amanda GirodProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.
Madeline HughesProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.
Emma WilcoxProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.
Mayher PatelProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.
Eleanor C BroerenProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.
Kezang C TsheringProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.
Marina DiStefanoProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.
Lorenzo D BottoDivision of Medical Genetics, University of Utah, Salt Lake City, UT 84112, United States.
Lindsay C BurrageDepartment of Molecular and Human Genetics, Baylor College of Medicine, and Texas Children's Hospital, Houston, TX 77030, United States.
Valérie Cormier-DaireImagine Institute, Paris Cité University, Necker-Enfants Malades Hospital, 75015 Paris, France.ORCID 0000-0002-2839-9856
Juan DongPrevention Genetics-Part of Exact Sciences, Marshfield, WI 54449, United States.
Nadja EhmkeInstitute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.
Deborah KrakowDepartment of Human Genetics, University of California, Los Angeles, CA 90095, United States.
Shahida MoosaDivision of Molecular Biology and Human Genetics, Stellenbosch University, and Medical Genetics, Tygerberg Hospital, Cape Town 7505, South Africa.
Geert MortierCenter for Human Genetics, University Hospital Leuven, 3000 Leuven, Belgium.
Sandesh NagamaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, and Texas Children's Hospital, Houston, TX 77030, United States.
Loren PenaCincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, United States.
Pedro A Sanchez-LaraDepartment of Pediatrics, Guerin Children's at Cedars-Sinai Medical Center, Los Angeles, CA 90048, United States.
Andrea Superti-FurgaDivision of Genetic Medicine, University of Lausanne, 1015 Lausanne, Switzerland.
Sheila UngerGenetica AG, 8048 Zurich, Switzerland.
Danita VelascoDepartment of Pediatrics, University of Nebraska Medical Center, Omaha, NE 68198, United States.ORCID 0000-0002-8076-3969
Matthew L WarmanDepartment of Orthopedic Surgery, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, United States.
Kerry BrownConnective Tissue Gene Tests, HNL Lab Medicine, Allentown, PA 18106, United States.
Deepika D'Cunha BurkardtDivision of Genetics and Metabolism, Rare Disease Institute, Children's National Hospital, Washington, DC 20012, United States.
Carlos R FerreiraUnit on Skeletal Genomics, Eunice Kennedy Shriver National Institute on Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States.ORCID 0000-0002-2697-1046
ClinGen Skeletal Disorders Gene Curation Expert Panel

Funding

ClinGen AI Data Delivery SupplementU24HG006834 · NHGRI · BROAD INSTITUTE, INC. · PI Marina DiStefano, CHRISTA LESE MARTIN · 2021 to 2026
$26.7M
Skeletal GenomicsZIAHG200407 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI FERREIRA, CARLOS · 2020 to 2024
$3.7M
Skeletal and Metabolic Translational MedicineZIAHD009024 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI FERREIRA, CARLOS · 2025 to 2025
$2.5M
Intramural NIH HHS ZIA HD009024Intramural NIH HHS ZIA HG200407National Human Genome Research Institute of the National Institutes of Health U24HG006834NHGRI NIH HHS U24 HG006834
6 · The paper itself

Abstract

More than 770 genetic skeletal disorders have been described, most with disease-causing variants reported in 1 of over 550 different genes. The ClinGen Skeletal Disorders Gene Curation Expert Panel was established to determine the strength of the evidence that supports specific gene-disease relationships (GDRs). Such information can assist clinical testing laboratories in choosing genes that should be included on diagnostic panels. Nine genes accounting for the most frequently encountered skeletal dysplasias (COL1A1, COL1A2, COL2A1, FGFR3, SLC26A2, TRPV4, COMP, ALPL, and SOX9) associated in the medical literature with 26 different skeletal disorders were reviewed using a semi-quantitative scoring framework. This framework is utilized by ClinGen to assess the clinical validity of GDRs. All 9 genes were "definitively" associated with at least 1 skeletal disorder and several were associated with multiple clinically or radiographically distinct skeletal conditions. Among these 26 GDRs, the ClinGen Skeletal Disorders Gene Curation Expert Panel determined that 22 (84.6%) had definitive relationships, 2 (7.7%) had moderate relationships, and 2 (7.7%) had limited relationships. None of the 26 GDRs were disputed or refuted. For moderate and limited GDRs, clinical and genetic reports from additional probands and their families are needed to upgrade these GDRs to definitive. Up-to-date assessments about the strength of the relationship between genes and phenotypes should improve the sensitivity and specificity of genetic testing in individuals with skeletal disease. The expert curations for the 9 aforementioned genes are published on the ClinGen website.

Indexed as

Bone DiseasesDatabases, GeneticGenetic Predisposition to DiseaseHumansClinGengene-disease validitygenomic medicineskeletalskeletal disorderskeletal dysplasia

Identifiers

PMID41313243
PMCPMC13192282

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.